P2RX2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of somitogenesis (GO:0014807)7.84595029
2GDP-mannose metabolic process (GO:0019673)7.29967378
3protein polyglutamylation (GO:0018095)7.11974450
4fusion of sperm to egg plasma membrane (GO:0007342)6.92853142
5DNA strand renaturation (GO:0000733)6.54832975
6cellular response to ATP (GO:0071318)6.39731192
7pathway-restricted SMAD protein phosphorylation (GO:0060389)5.84202356
8meiotic chromosome segregation (GO:0045132)5.82322976
9auditory receptor cell differentiation (GO:0042491)5.73470545
10acrosome reaction (GO:0007340)5.73219458
11sperm motility (GO:0030317)5.61209865
12adenine nucleotide transport (GO:0051503)5.51322319
13negative regulation of cell aging (GO:0090344)5.49649476
14pentose metabolic process (GO:0019321)5.45570529
15acrosome assembly (GO:0001675)5.20733162
16piRNA metabolic process (GO:0034587)5.00386599
17plasma membrane fusion (GO:0045026)4.93950656
18positive regulation of protein kinase C signaling (GO:0090037)4.93872526
19purine ribonucleotide transport (GO:0015868)4.93001709
20sperm-egg recognition (GO:0035036)4.88101446
21G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.74455665
22male meiosis (GO:0007140)4.70123054
23multicellular organism reproduction (GO:0032504)4.68701257
24synaptonemal complex organization (GO:0070193)4.67942907
25proline biosynthetic process (GO:0006561)4.67017846
26adenosine receptor signaling pathway (GO:0001973)4.65790202
27rRNA methylation (GO:0031167)4.63395734
28purine nucleotide transport (GO:0015865)4.59992794
29binding of sperm to zona pellucida (GO:0007339)4.56172678
30negative regulation of microtubule polymerization (GO:0031115)4.54250121
31mammary gland epithelial cell differentiation (GO:0060644)4.53667852
32synaptonemal complex assembly (GO:0007130)4.50118048
33spermatid development (GO:0007286)4.49942166
34endocrine hormone secretion (GO:0060986)4.30778827
35rRNA modification (GO:0000154)4.22028757
36cell-cell recognition (GO:0009988)4.20121894
37nucleotide transmembrane transport (GO:1901679)4.17221495
38regulation of mammary gland epithelial cell proliferation (GO:0033599)4.17072513
39single fertilization (GO:0007338)4.11777160
40glycoprotein catabolic process (GO:0006516)4.11222978
41inner ear receptor cell differentiation (GO:0060113)4.04903029
42endocardial cushion morphogenesis (GO:0003203)4.04176281
43cell wall macromolecule metabolic process (GO:0044036)4.03128099
44cell wall macromolecule catabolic process (GO:0016998)4.03128099
45pyrimidine nucleobase catabolic process (GO:0006208)4.02789377
46regulation of skeletal muscle contraction (GO:0014819)4.00111299
47reproduction (GO:0000003)3.90349101
48DNA replication checkpoint (GO:0000076)3.88393729
49cardiac right ventricle morphogenesis (GO:0003215)3.87505149
50DNA methylation involved in gamete generation (GO:0043046)3.86752303
51regulation of nuclear cell cycle DNA replication (GO:0033262)3.85057315
52regulation of collateral sprouting (GO:0048670)3.81870469
53hair cell differentiation (GO:0035315)3.76692106
54ear development (GO:0043583)3.74502509
55protein retention in ER lumen (GO:0006621)3.73132321
56regulation of cilium movement (GO:0003352)3.72665999
57positive regulation of keratinocyte differentiation (GO:0045618)3.72038214
58sex determination (GO:0007530)3.66993106
59cell differentiation involved in embryonic placenta development (GO:0060706)3.66599533
60seminiferous tubule development (GO:0072520)3.64959472
61regulation of fatty acid beta-oxidation (GO:0031998)3.64128762
62pharyngeal system development (GO:0060037)3.64055770
63DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.58852984
64negative regulation of cell size (GO:0045792)3.57286773
65nucleoside transport (GO:0015858)3.57178822
66calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.56845783
67Notch signaling involved in heart development (GO:0061314)3.55917908
68regulation of cardioblast proliferation (GO:0003264)3.55880785
69regulation of secondary heart field cardioblast proliferation (GO:0003266)3.55880785
70sperm capacitation (GO:0048240)3.53762789
71epithelial cilium movement (GO:0003351)3.52581360
723-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.49953237
73purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.49953237
74protein insertion into membrane (GO:0051205)3.45327399
75semaphorin-plexin signaling pathway (GO:0071526)3.45281982
76glial cell proliferation (GO:0014009)3.42824019
77regulation of cell proliferation involved in kidney development (GO:1901722)3.42593035
78meiotic nuclear division (GO:0007126)3.42396948
79planar cell polarity pathway involved in neural tube closure (GO:0090179)3.42299191
80phosphate ion homeostasis (GO:0055062)3.42286757
81trivalent inorganic anion homeostasis (GO:0072506)3.42286757
82proline metabolic process (GO:0006560)3.41904374
83UV protection (GO:0009650)3.41391272
84mesenchyme morphogenesis (GO:0072132)3.40903466
85maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.39930897
86galactose catabolic process (GO:0019388)3.39709345
87hemidesmosome assembly (GO:0031581)3.39534552
88mechanoreceptor differentiation (GO:0042490)3.39533677
89endothelial cell chemotaxis (GO:0035767)3.36901820
90regulation of transforming growth factor beta2 production (GO:0032909)3.35113750
91mannose metabolic process (GO:0006013)3.33528006
92DNA damage response, signal transduction resulting in transcription (GO:0042772)3.31254097
93nucleotide-sugar biosynthetic process (GO:0009226)3.30992591
94cilium or flagellum-dependent cell motility (GO:0001539)3.26626061
95* sensory perception of sound (GO:0007605)3.26598718
96regulation of histone H3-K27 methylation (GO:0061085)3.26400524
97regulation of hydrogen peroxide metabolic process (GO:0010310)3.25512794
98sulfur amino acid catabolic process (GO:0000098)3.25265527
99axonemal dynein complex assembly (GO:0070286)3.24952592
100* sensory perception of mechanical stimulus (GO:0050954)3.24160637
101keratinocyte development (GO:0003334)3.22997478
102fertilization (GO:0009566)3.22977609
103desmosome organization (GO:0002934)3.22806762
104positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)3.22219463
105lens fiber cell differentiation (GO:0070306)3.18564812
106male meiosis I (GO:0007141)3.16710030
107nucleoside transmembrane transport (GO:1901642)3.14591076
108cardiac ventricle morphogenesis (GO:0003208)3.13530909
109outer ear morphogenesis (GO:0042473)3.13452105
110lung secretory cell differentiation (GO:0061140)3.13406651
111maternal placenta development (GO:0001893)3.12809344
112genitalia morphogenesis (GO:0035112)3.12586060
113diol metabolic process (GO:0034311)3.11369970
114synaptic vesicle docking involved in exocytosis (GO:0016081)3.10293322
115regulation of synapse structural plasticity (GO:0051823)3.09492827
116regulation of cytokine production involved in inflammatory response (GO:1900015)3.08435944
117histone phosphorylation (GO:0016572)3.06175436
118folic acid metabolic process (GO:0046655)3.04920366
119spermatogenesis (GO:0007283)3.04858472
120regulation of hippo signaling (GO:0035330)3.04774518
121cell migration in hindbrain (GO:0021535)3.04483913
122regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.03930646
123hair follicle development (GO:0001942)3.03403184
124male gamete generation (GO:0048232)3.02823071
125regulation of meiosis I (GO:0060631)3.02765306
126response to water (GO:0009415)3.02429164
127purine nucleoside bisphosphate biosynthetic process (GO:0034033)3.02151431
128ribonucleoside bisphosphate biosynthetic process (GO:0034030)3.02151431
129nucleoside bisphosphate biosynthetic process (GO:0033866)3.02151431
130response to food (GO:0032094)3.01016019
131cellular anion homeostasis (GO:0030002)3.00759207
132hypotonic response (GO:0006971)3.00304614
133sphingomyelin metabolic process (GO:0006684)3.00059954
134cilium movement (GO:0003341)2.99957836
135sequestering of actin monomers (GO:0042989)2.93761393
136organic cation transport (GO:0015695)2.92909709
137positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.92332752
138branching involved in prostate gland morphogenesis (GO:0060442)2.90910810
139melanin biosynthetic process (GO:0042438)2.90013427
140cellular sodium ion homeostasis (GO:0006883)2.89441788
141type B pancreatic cell proliferation (GO:0044342)2.88520070
142regulation of translational fidelity (GO:0006450)2.87995672
143regulation of water loss via skin (GO:0033561)2.86782073
144activin receptor signaling pathway (GO:0032924)2.85875346
145establishment of skin barrier (GO:0061436)2.84854313
146male genitalia development (GO:0030539)2.84810510
147cellular process involved in reproduction in multicellular organism (GO:0022412)2.84552914
148sphingosine metabolic process (GO:0006670)2.83393407
149gonadal mesoderm development (GO:0007506)2.82238856
150gamete generation (GO:0007276)2.80474952
151dorsal/ventral axis specification (GO:0009950)2.78431590
152positive regulation of epidermal cell differentiation (GO:0045606)2.77836696
153regulation of microtubule-based movement (GO:0060632)2.77804545
154regulation of chromatin binding (GO:0035561)2.77759393
155G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.77491837
156atrioventricular valve morphogenesis (GO:0003181)2.77345679
157heart valve morphogenesis (GO:0003179)2.77230655
158protein import into peroxisome matrix (GO:0016558)2.75927044
159grooming behavior (GO:0007625)2.75730845
160negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.74744513
161negative regulation of inclusion body assembly (GO:0090084)2.74706753
162sex differentiation (GO:0007548)2.74626870
163cardiac chamber morphogenesis (GO:0003206)2.74618255
164glutathione biosynthetic process (GO:0006750)2.74190829
165tRNA modification (GO:0006400)2.73075730
166aorta morphogenesis (GO:0035909)2.72603952
167nucleobase catabolic process (GO:0046113)2.72423782
168regulation of fatty acid oxidation (GO:0046320)2.72315172
169bundle of His cell to Purkinje myocyte communication (GO:0086069)2.71785775
170cellular response to virus (GO:0098586)2.70748739
171peptidyl-tyrosine autophosphorylation (GO:0038083)2.70141021
172metanephric mesenchyme development (GO:0072075)2.69741801
173regulation of phospholipid biosynthetic process (GO:0071071)2.69362513
174germ cell development (GO:0007281)2.68640090
175positive regulation of Notch signaling pathway (GO:0045747)2.66942276
176establishment of monopolar cell polarity (GO:0061162)2.65019033
177establishment or maintenance of monopolar cell polarity (GO:0061339)2.65019033
178microtubule depolymerization (GO:0007019)2.64926843
179G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.63006947
180detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.62545066
181negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.62476151
182mRNA cleavage (GO:0006379)2.62226796
183negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.61642823
184microtubule severing (GO:0051013)2.60935715
185negative regulation of transcription by competitive promoter binding (GO:0010944)2.60171903
186negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.58750090
187oocyte development (GO:0048599)2.58509767
188primary alcohol catabolic process (GO:0034310)2.57642833
189melanin metabolic process (GO:0006582)2.56705714
190regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)2.55377291
191behavioral response to nicotine (GO:0035095)2.54102264
192nucleotide transport (GO:0006862)2.51546743
193* sensory perception of taste (GO:0050909)2.50883178

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat7.30053117
2RBPJ_22232070_ChIP-Seq_NCS_Mouse3.52608403
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.48260201
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.37947590
5VDR_21846776_ChIP-Seq_THP-1_Human3.31806277
6BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.07600374
7STAT6_21828071_ChIP-Seq_BEAS2B_Human2.88027607
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.83445163
9RACK7_27058665_Chip-Seq_MCF-7_Human2.81739694
10LXR_22292898_ChIP-Seq_THP-1_Human2.78182618
11TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.69411002
12P68_20966046_ChIP-Seq_HELA_Human2.65537708
13XRN2_22483619_ChIP-Seq_HELA_Human2.40122963
14ESR1_20079471_ChIP-ChIP_T-47D_Human2.40031557
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.30053227
16EZH2_22144423_ChIP-Seq_EOC_Human2.25208937
17NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.18400084
18DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.16676372
19ESR1_21235772_ChIP-Seq_MCF-7_Human2.16520258
20AHR_22903824_ChIP-Seq_MCF-7_Human2.16372999
21TET1_21451524_ChIP-Seq_MESCs_Mouse2.09972520
22MYC_22102868_ChIP-Seq_BL_Human2.02972170
23ZNF217_24962896_ChIP-Seq_MCF-7_Human2.02393608
24ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.93143251
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.92635153
26RARG_19884340_ChIP-ChIP_MEFs_Mouse1.90302493
27SMC4_20622854_ChIP-Seq_HELA_Human1.88834549
28* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.82103492
29KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.80840898
30MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.78837519
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.77020288
32CTCF_27219007_Chip-Seq_ERYTHROID_Human1.75376119
33E2F1_20622854_ChIP-Seq_HELA_Human1.74181387
34ARNT_22903824_ChIP-Seq_MCF-7_Human1.72588770
35BCOR_27268052_Chip-Seq_Bcells_Human1.70851391
36* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.69326974
37E2F7_22180533_ChIP-Seq_HELA_Human1.68815949
38HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.67159839
39FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.64148989
40* MAF_26560356_Chip-Seq_TH2_Human1.62109969
41* KDM2B_26808549_Chip-Seq_DND41_Human1.62023900
42* CREB1_26743006_Chip-Seq_LNCaP_Human1.58870555
43FOXP1_21924763_ChIP-Seq_HESCs_Human1.58748851
44PHF8_20622854_ChIP-Seq_HELA_Human1.58746234
45ZNF263_19887448_ChIP-Seq_K562_Human1.58457733
46SA1_27219007_Chip-Seq_ERYTHROID_Human1.58290659
47TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55761750
48TCF7_22412390_ChIP-Seq_EML_Mouse1.54744534
49BCL6_27268052_Chip-Seq_Bcells_Human1.54025206
50* RARB_24833708_ChIP-Seq_LIVER_Mouse1.51731156
51SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.51369448
52EP300_21415370_ChIP-Seq_HL-1_Mouse1.50447150
53SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.49973891
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.47870184
55RNF2_27304074_Chip-Seq_ESCs_Mouse1.47846488
56EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.45570982
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.41705685
58RARA_24833708_ChIP-Seq_LIVER_Mouse1.40243968
59SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.40211133
60DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40110426
61SRY_22984422_ChIP-ChIP_TESTIS_Rat1.39984682
62SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39799930
63CTCF_21964334_Chip-Seq_Bcells_Human1.39651764
64VDR_24763502_ChIP-Seq_THP-1_Human1.37799002
65CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.37604929
66RXRA_24833708_ChIP-Seq_LIVER_Mouse1.36783150
67SUZ12_27294783_Chip-Seq_ESCs_Mouse1.36490592
68ELK4_26923725_Chip-Seq_MESODERM_Mouse1.36100171
69SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.35885138
70EZH2_27294783_Chip-Seq_ESCs_Mouse1.35375099
71ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35149048
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.34313203
73TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33305384
74POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33305384
75JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.30997596
76WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30199617
77ELF1_20517297_ChIP-Seq_JURKAT_Human1.30108840
78CTCF_21964334_ChIP-Seq_BJAB-B_Human1.29273274
79ETS1_21867929_ChIP-Seq_TH2_Mouse1.28571166
80ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.28275158
81CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.27690198
82RUNX1_27514584_Chip-Seq_MCF-7_Human1.26865152
83NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.26738225
84ATF3_27146783_Chip-Seq_COLON_Human1.23490223
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23192756
86UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.22773585
87KDM5A_27292631_Chip-Seq_BREAST_Human1.22353342
88ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22099421
89CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.20592051
90CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.20098844
91MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19967129
92* MAF_26560356_Chip-Seq_TH1_Human1.19924760
93GATA1_26923725_Chip-Seq_HPCs_Mouse1.19627690
94ESR1_15608294_ChIP-ChIP_MCF-7_Human1.19438554
95CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.19043001
96CTCF_26484167_Chip-Seq_Bcells_Mouse1.18354475
97TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17295524
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15439807
99ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15389424
100PU.1_20513432_ChIP-Seq_Bcells_Mouse1.15028081
101SOX2_27498859_Chip-Seq_STOMACH_Mouse1.14934436
102SA1_27219007_Chip-Seq_Bcells_Human1.14162006
103IKZF1_21737484_ChIP-ChIP_HCT116_Human1.12967285
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12521454
105E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12501893
106SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12091555
107SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.11649962
108ERG_21242973_ChIP-ChIP_JURKAT_Human1.11542334
109YY1_22570637_ChIP-Seq_MALME-3M_Human1.10669283
110PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.10565219
111CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.10498388
112CTCF_20526341_ChIP-Seq_ESCs_Human1.09986473
113HIF1A_21447827_ChIP-Seq_MCF-7_Human1.09010300
114UTX_26944678_Chip-Seq_JUKART_Human1.08806703
115SOX9_24532713_ChIP-Seq_HFSC_Mouse1.08690261
116MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08573303
117KLF5_25053715_ChIP-Seq_YYC3_Human1.08311154
118RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08084211
119RING1B_27294783_Chip-Seq_NPCs_Mouse1.07662847
120* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.07378153
121TCF4_18268006_ChIP-ChIP_LS174T_Human1.06638713
122MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.06622498
123BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.05967375
124TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05660053
125PKCTHETA_26484144_Chip-Seq_BREAST_Human1.04415171
126TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04179062
127SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.04062717
128SOX2_18555785_ChIP-Seq_MESCs_Mouse1.02840964
129CTBP2_25329375_ChIP-Seq_LNCAP_Human1.02768342
130TP63_22573176_ChIP-Seq_HFKS_Human1.02150814
131BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02139822
132CLOCK_20551151_ChIP-Seq_293T_Human1.01819989
133NCOR1_26117541_ChIP-Seq_K562_Human1.01210157
134* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.01127243
135JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.00774917
136* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00321496
137GABP_19822575_ChIP-Seq_HepG2_Human1.00127768
138PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99347781
139ERA_21632823_ChIP-Seq_H3396_Human0.99238879
140NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.99190659
141TP53_22127205_ChIP-Seq_IMR90_Human0.98851905
142KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98285656
143WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98227734
144DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.98227690
145AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.96533749
146PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.91089979
147MYC_27129775_Chip-Seq_CORNEA_Mouse0.89835885
148PIAS1_25552417_ChIP-Seq_VCAP_Human0.89100009
149SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.89062135
150CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88966191
151STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.87717772
152TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.86079266
153ISL1_27105846_Chip-Seq_CPCs_Mouse0.85956520
154GF1B_26923725_Chip-Seq_HPCs_Mouse0.85698576
155SOX2_20726797_ChIP-Seq_SW620_Human0.85423849
156KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.84905450
157NANOG_18692474_ChIP-Seq_MEFs_Mouse0.84411206
158KDM2B_26808549_Chip-Seq_REH_Human0.83986997
159* CTCF_27219007_Chip-Seq_Bcells_Human0.83796555
160CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83269269
161KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.83143400
162KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.83143400
163KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.83143400
164CBX2_27304074_Chip-Seq_ESCs_Mouse0.82355040
165GF1_26923725_Chip-Seq_HPCs_Mouse0.81972366
166FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.81243272
167SMAD3_21741376_ChIP-Seq_ESCs_Human0.81138425
168EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.81050406
169DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79869150
170FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78905062
171* KDM2B_26808549_Chip-Seq_K562_Human0.78679789
172OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.78642893
173* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.78203416
174* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.78124072
175PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.76976113
176SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.76126265
177KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.75249988
178RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.75227683
179SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.74722989
180SALL4_18804426_ChIP-ChIP_XEN_Mouse0.74563687
181ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.74348097
182ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.74205993

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003878_abnormal_ear_physiology6.74573122
2MP0005377_hearing/vestibular/ear_phenot6.74573122
3MP0005423_abnormal_somatic_nervous5.18339410
4MP0005410_abnormal_fertilization4.88890675
5MP0005171_absent_coat_pigmentation4.63628080
6MP0003136_yellow_coat_color4.54483113
7MP0003879_abnormal_hair_cell4.30814671
8MP0001986_abnormal_taste_sensitivity4.21357580
9MP0001485_abnormal_pinna_reflex3.81308210
10MP0005174_abnormal_tail_pigmentation3.70254362
11MP0005409_darkened_coat_color3.52935208
12MP0004381_abnormal_hair_follicle3.34647375
13MP0005083_abnormal_biliary_tract3.31417477
14MP0003941_abnormal_skin_development2.70857918
15MP0008877_abnormal_DNA_methylation2.64613829
16MP0008789_abnormal_olfactory_epithelium2.64000689
17MP0001188_hyperpigmentation2.63518396
18MP0001963_abnormal_hearing_physiology2.58517460
19MP0010234_abnormal_vibrissa_follicle2.45007619
20MP0003693_abnormal_embryo_hatching2.36912050
21MP0000026_abnormal_inner_ear2.36860421
22MP0005499_abnormal_olfactory_system2.35500691
23MP0005394_taste/olfaction_phenotype2.35500691
24MP0002653_abnormal_ependyma_morphology2.27173424
25MP0003698_abnormal_male_reproductive2.25076879
26MP0001968_abnormal_touch/_nociception2.23677738
27MP0004510_myositis2.15489741
28MP0000537_abnormal_urethra_morphology2.11130612
29MP0001984_abnormal_olfaction2.08919786
30MP0003787_abnormal_imprinting2.08714929
31MP0004185_abnormal_adipocyte_glucose2.05666886
32MP0003111_abnormal_nucleus_morphology2.01708341
33MP0002098_abnormal_vibrissa_morphology1.95092160
34MP0004885_abnormal_endolymph1.89977869
35MP0008995_early_reproductive_senescence1.86729247
36MP0001849_ear_inflammation1.86012958
37MP0003123_paternal_imprinting1.81331587
38MP0002796_impaired_skin_barrier1.76158218
39MP0004264_abnormal_extraembryonic_tissu1.75957270
40MP0000049_abnormal_middle_ear1.72883624
41MP0001929_abnormal_gametogenesis1.71511727
42MP0001348_abnormal_lacrimal_gland1.61507706
43MP0003942_abnormal_urinary_system1.60747678
44MP0000534_abnormal_ureter_morphology1.60287159
45MP0003705_abnormal_hypodermis_morpholog1.59503124
46MP0004957_abnormal_blastocyst_morpholog1.59298519
47MP0005623_abnormal_meninges_morphology1.58044710
48MP0001756_abnormal_urination1.57355288
49MP0001661_extended_life_span1.56033008
50MP0000566_synostosis1.54569554
51MP0002210_abnormal_sex_determination1.53425635
52MP0004233_abnormal_muscle_weight1.51464091
53MP0005647_abnormal_sex_gland1.49709434
54MP0009384_cardiac_valve_regurgitation1.49445668
55MP0004272_abnormal_basement_membrane1.38653913
56MP0003115_abnormal_respiratory_system1.37060428
57MP0003453_abnormal_keratinocyte_physiol1.33283771
58MP0005508_abnormal_skeleton_morphology1.32648044
59MP0001502_abnormal_circadian_rhythm1.31960159
60MP0001145_abnormal_male_reproductive1.29321115
61MP0001664_abnormal_digestion1.27603366
62MP0000750_abnormal_muscle_regeneration1.27407934
63MP0000377_abnormal_hair_follicle1.25965505
64MP0010094_abnormal_chromosome_stability1.24899498
65MP0000003_abnormal_adipose_tissue1.24603564
66MP0002102_abnormal_ear_morphology1.24223669
67MP0000538_abnormal_urinary_bladder1.23877610
68MP0002736_abnormal_nociception_after1.22444557
69MP0000653_abnormal_sex_gland1.19831674
70MP0002161_abnormal_fertility/fecundity1.18363688
71MP0002282_abnormal_trachea_morphology1.18193429
72MP0002009_preneoplasia1.16485769
73MP0009379_abnormal_foot_pigmentation1.16249000
74MP0010678_abnormal_skin_adnexa1.16033653
75MP0002233_abnormal_nose_morphology1.15102085
76MP0002932_abnormal_joint_morphology1.14926194
77MP0001873_stomach_inflammation1.13529360
78MP0010771_integument_phenotype1.10375788
79MP0000778_abnormal_nervous_system1.09725643
80MP0000015_abnormal_ear_pigmentation1.07943077
81MP0001765_abnormal_ion_homeostasis1.07575555
82MP0005058_abnormal_lysosome_morphology1.04367306
83MP0002638_abnormal_pupillary_reflex1.00582557
84MP0000516_abnormal_urinary_system0.97564226
85MP0005367_renal/urinary_system_phenotyp0.97564226
86MP0005275_abnormal_skin_tensile0.97194876
87MP0003077_abnormal_cell_cycle0.96235132
88MP0005076_abnormal_cell_differentiation0.93818014
89MP0001216_abnormal_epidermal_layer0.93733572
90MP0000013_abnormal_adipose_tissue0.91602027
91MP0005408_hypopigmentation0.91151036
92MP0000427_abnormal_hair_cycle0.90991509
93MP0000470_abnormal_stomach_morphology0.90944573
94MP0000627_abnormal_mammary_gland0.90882595
95MP0009931_abnormal_skin_appearance0.90490463
96MP0005330_cardiomyopathy0.86572212
97MP0000383_abnormal_hair_follicle0.85215750
98MP0009780_abnormal_chondrocyte_physiolo0.84651372
99MP0001881_abnormal_mammary_gland0.83970069
100MP0005666_abnormal_adipose_tissue0.83893252
101MP0004270_analgesia0.83224217
102MP0005187_abnormal_penis_morphology0.82862225
103MP0002752_abnormal_somatic_nervous0.82579036
104MP0002735_abnormal_chemical_nociception0.81994772
105MP0001727_abnormal_embryo_implantation0.80622916
106MP0004130_abnormal_muscle_cell0.80392146
107MP0000367_abnormal_coat/_hair0.79947254
108MP0003121_genomic_imprinting0.77791976
109MP0006072_abnormal_retinal_apoptosis0.77099373
110MP0000762_abnormal_tongue_morphology0.77055500
111MP0000613_abnormal_salivary_gland0.76718718
112MP0005220_abnormal_exocrine_pancreas0.76284217
113MP0002160_abnormal_reproductive_system0.75865503
114MP0003183_abnormal_peptide_metabolism0.75319232
115MP0004858_abnormal_nervous_system0.73605196
116MP0000490_abnormal_crypts_of0.73355975
117MP0001286_abnormal_eye_development0.72525125
118MP0002184_abnormal_innervation0.72444147
119MP0000678_abnormal_parathyroid_gland0.71980629
120MP0009250_abnormal_appendicular_skeleto0.71660289
121MP0005248_abnormal_Harderian_gland0.68463230
122MP0010030_abnormal_orbit_morphology0.68392913
123MP0003890_abnormal_embryonic-extraembry0.68327687
124MP0005375_adipose_tissue_phenotype0.67677342
125MP0004197_abnormal_fetal_growth/weight/0.67275740
126MP0000579_abnormal_nail_morphology0.65357580
127MP0009053_abnormal_anal_canal0.64697543
128MP0002088_abnormal_embryonic_growth/wei0.64196393
129MP0002132_abnormal_respiratory_system0.63740650
130MP0001919_abnormal_reproductive_system0.63692090
131MP0003315_abnormal_perineum_morphology0.63288563
132MP0005501_abnormal_skin_physiology0.62821396
133MP0003936_abnormal_reproductive_system0.62224655
134MP0002080_prenatal_lethality0.61765373
135MP0003984_embryonic_growth_retardation0.61725788
136MP0001672_abnormal_embryogenesis/_devel0.61410266
137MP0005380_embryogenesis_phenotype0.61410266
138MP0004134_abnormal_chest_morphology0.60528965
139MP0002089_abnormal_postnatal_growth/wei0.60237123
140MP0002075_abnormal_coat/hair_pigmentati0.60216544
141MP0003861_abnormal_nervous_system0.60154423
142MP0002086_abnormal_extraembryonic_tissu0.59415514
143MP0000751_myopathy0.58754050
144MP0002928_abnormal_bile_duct0.58582198
145MP0002751_abnormal_autonomic_nervous0.56821856
146MP0004782_abnormal_surfactant_physiolog0.56223203
147MP0002277_abnormal_respiratory_mucosa0.56067482
148MP0000467_abnormal_esophagus_morphology0.56012950
149MP0001697_abnormal_embryo_size0.55977704
150MP0002254_reproductive_system_inflammat0.53871472
151MP0004019_abnormal_vitamin_homeostasis0.53728686
152MP0002085_abnormal_embryonic_tissue0.53403593
153MP0000747_muscle_weakness0.53249953
154MP0003045_fibrosis0.53007605
155MP0005310_abnormal_salivary_gland0.52928217
156MP0002909_abnormal_adrenal_gland0.52706815
157MP0003385_abnormal_body_wall0.52317029
158MP0001340_abnormal_eyelid_morphology0.51950830
159MP0001851_eye_inflammation0.51934053
160MP0002060_abnormal_skin_morphology0.50210452
161MP0004043_abnormal_pH_regulation0.50097523
162MP0010352_gastrointestinal_tract_polyps0.49381186
163MP0005389_reproductive_system_phenotype0.48730662
164MP0005390_skeleton_phenotype0.48162697
165MP0002116_abnormal_craniofacial_bone0.48020211
166MP0002249_abnormal_larynx_morphology0.47925456
167MP0003755_abnormal_palate_morphology0.47266761
168MP0001346_abnormal_lacrimal_gland0.47259635
169MP0008875_abnormal_xenobiotic_pharmacok0.46113397
170MP0000432_abnormal_head_morphology0.46037849
171MP0001486_abnormal_startle_reflex0.45665824
172MP0000569_abnormal_digit_pigmentation0.45425880
173MP0001299_abnormal_eye_distance/0.45288909

Predicted human phenotypes

RankGene SetZ-score
1Testicular atrophy (HP:0000029)5.82094631
2Mixed hearing impairment (HP:0000410)5.69644779
3Thin bony cortex (HP:0002753)5.43358655
4Rib fusion (HP:0000902)5.34106673
5Intestinal fistula (HP:0100819)5.06375874
6Epiphyseal dysplasia (HP:0002656)5.00967543
7Rectal fistula (HP:0100590)4.96660605
8Rectovaginal fistula (HP:0000143)4.96660605
9Aplasia/Hypoplasia of the pubic bone (HP:0009104)4.95607703
10Vaginal fistula (HP:0004320)4.89761396
11Unilateral renal agenesis (HP:0000122)4.85414687
12Bilateral microphthalmos (HP:0007633)4.77697173
13Aplasia/Hypoplasia involving the carpal bones (HP:0006502)4.54653902
14Hypoplastic ischia (HP:0003175)4.50618544
15Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.49947430
16Akinesia (HP:0002304)4.45991491
17Sensory axonal neuropathy (HP:0003390)4.29939252
18Facial hemangioma (HP:0000329)4.05315235
19Ulnar bowing (HP:0003031)4.02662362
20Abnormality of the ischium (HP:0003174)3.95509682
21Lip pit (HP:0100267)3.88987707
22Turricephaly (HP:0000262)3.88790790
23Anomalous pulmonary venous return (HP:0010772)3.86053800
24Poikiloderma (HP:0001029)3.80925571
25Coronal craniosynostosis (HP:0004440)3.67489711
26Annular pancreas (HP:0001734)3.62382964
27Bell-shaped thorax (HP:0001591)3.62065942
28Abnormality of the pulmonary veins (HP:0011718)3.56647498
29Fused cervical vertebrae (HP:0002949)3.48575408
30Abnormality of the lower motor neuron (HP:0002366)3.48399955
31Dynein arm defect of respiratory motile cilia (HP:0012255)3.46760030
32Absent/shortened dynein arms (HP:0200106)3.46760030
33Abnormality of midbrain morphology (HP:0002418)3.46569579
34Molar tooth sign on MRI (HP:0002419)3.46569579
35Delayed epiphyseal ossification (HP:0002663)3.41226203
36Attenuation of retinal blood vessels (HP:0007843)3.38024404
37Patellar aplasia (HP:0006443)3.37008959
38Multifactorial inheritance (HP:0001426)3.30319038
39Aplasia of the musculature (HP:0100854)3.29381168
40Hypoplasia of the fovea (HP:0007750)3.24871461
41Aplasia/Hypoplasia of the fovea (HP:0008060)3.24871461
42Aplasia/Hypoplasia of the patella (HP:0006498)3.15523082
43Abnormality of the pubic bones (HP:0003172)3.10365048
44Congenital stationary night blindness (HP:0007642)3.09896249
45Nephronophthisis (HP:0000090)3.08072130
46Absent thumb (HP:0009777)3.04135765
47Choanal stenosis (HP:0000452)2.97312427
48Squamous cell carcinoma (HP:0002860)2.96897810
49Abnormality of the intrinsic pathway (HP:0010989)2.93254612
50Abnormality of placental membranes (HP:0011409)2.89183334
51Amniotic constriction ring (HP:0009775)2.89183334
52Abnormal vertebral ossification (HP:0100569)2.86682549
53Birth length less than 3rd percentile (HP:0003561)2.85932650
54Onycholysis (HP:0001806)2.85801439
55Popliteal pterygium (HP:0009756)2.81524985
56Dysmetric saccades (HP:0000641)2.80436389
57Capillary hemangiomas (HP:0005306)2.79935168
58Aplasia/Hypoplasia of the macula (HP:0008059)2.78340707
59Absent radius (HP:0003974)2.77996891
60Abnormality of cochlea (HP:0000375)2.77379513
61Bony spicule pigmentary retinopathy (HP:0007737)2.73829291
62Dyschromatopsia (HP:0007641)2.72732155
63Aplasia/Hypoplasia affecting the retina (HP:0008061)2.72714224
64Chorioretinal atrophy (HP:0000533)2.70747292
65Male infertility (HP:0003251)2.70442638
66Flat occiput (HP:0005469)2.67878534
67Myopathic facies (HP:0002058)2.64528394
68Short chin (HP:0000331)2.63088892
69Abnormality of the renal medulla (HP:0100957)2.60146480
70Anteriorly placed anus (HP:0001545)2.58176889
71Abnormality of the fovea (HP:0000493)2.57730345
72Short thumb (HP:0009778)2.57394756
73Alopecia of scalp (HP:0002293)2.57287226
74Aplasia involving forearm bones (HP:0009822)2.56165401
75Absent forearm bone (HP:0003953)2.56165401
76Hemorrhage of the eye (HP:0011885)2.54673174
77Vitreoretinal degeneration (HP:0000655)2.54617690
78Abnormal respiratory motile cilium physiology (HP:0012261)2.54577890
79Severe Myopia (HP:0011003)2.53923165
80Septate vagina (HP:0001153)2.53046986
81Curly hair (HP:0002212)2.52314437
82Fetal akinesia sequence (HP:0001989)2.52104091
83Morphological abnormality of the middle ear (HP:0008609)2.49465072
84Enlarged epiphyses (HP:0010580)2.48936660
85Morphological abnormality of the inner ear (HP:0011390)2.45586419
86Rhinitis (HP:0012384)2.44249439
87Atrioventricular block (HP:0001678)2.39811924
88Asymmetry of the thorax (HP:0001555)2.39512128
89Abnormality of the costochondral junction (HP:0000919)2.39023755
90Vertebral clefting (HP:0008428)2.37604455
91Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.36935632
92Absent epiphyses (HP:0010577)2.36935632
93Aplasia/Hypoplasia involving the musculature (HP:0001460)2.34084611
94Infertility (HP:0000789)2.33851685
95Facial diplegia (HP:0001349)2.30970374
96Sprengel anomaly (HP:0000912)2.30147139
97Pendular nystagmus (HP:0012043)2.29464611
98Widely patent fontanelles and sutures (HP:0004492)2.29059275
99Short humerus (HP:0005792)2.24386227
100Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.24274217
101Aplasia involving bones of the upper limbs (HP:0009823)2.23274560
102Aplasia of the phalanges of the hand (HP:0009802)2.23274560
103Aplasia involving bones of the extremities (HP:0009825)2.23274560
104Diminished movement (HP:0002374)2.17145533
105Periauricular skin pits (HP:0100277)2.16808438
106Preauricular pit (HP:0004467)2.16808438
107Autoamputation (HP:0001218)2.15802895
108Joint stiffness (HP:0001387)2.14260141
109Increased number of teeth (HP:0011069)2.14035397
110Mesangial abnormality (HP:0001966)2.11970061
111Concave nail (HP:0001598)2.11891985
112External ophthalmoplegia (HP:0000544)2.10641601
113Urinary glycosaminoglycan excretion (HP:0003541)2.10344912
114Mucopolysacchariduria (HP:0008155)2.10344912
115Germ cell neoplasia (HP:0100728)2.09999316
116Protuberant abdomen (HP:0001538)2.09029034
117Sparse lateral eyebrow (HP:0005338)2.08511225
118Gonadotropin excess (HP:0000837)2.06941842
119Glossoptosis (HP:0000162)2.04962367
120Absent eyelashes (HP:0000561)2.03866378
121Bowed forearm bones (HP:0003956)2.03483752
122Bowing of the arm (HP:0006488)2.03483752
123Conjugated hyperbilirubinemia (HP:0002908)2.00798402
124Postural tremor (HP:0002174)2.00693417
125Aplasia/hypoplasia of the humerus (HP:0006507)2.00649181
126Spina bifida occulta (HP:0003298)2.00280763
127Tubular atrophy (HP:0000092)1.99773999
128Reduced antithrombin III activity (HP:0001976)1.98242495
129Renal dysplasia (HP:0000110)1.97770129
130Abnormal epiphyseal ossification (HP:0010656)1.97393841
131Premature graying of hair (HP:0002216)1.96841075
132Hypoplasia of the radius (HP:0002984)1.95699519
133Prolonged partial thromboplastin time (HP:0003645)1.95166273
134Abnormality of the lacrimal duct (HP:0011481)1.93953551
135Chronic bronchitis (HP:0004469)1.93545239
136Thin ribs (HP:0000883)1.92694057
137Down-sloping shoulders (HP:0200021)1.92402711
138Abnormality of the intervertebral disk (HP:0005108)1.92336725
139Hand muscle atrophy (HP:0009130)1.91770297
140Abnormality of homocysteine metabolism (HP:0010919)1.91558958
141Homocystinuria (HP:0002156)1.91558958
142Abnormality of polysaccharide metabolism (HP:0011012)1.90854323
143Abnormality of glycosaminoglycan metabolism (HP:0004371)1.90854323
144Abnormality of mucopolysaccharide metabolism (HP:0011020)1.90854323
145Wide cranial sutures (HP:0010537)1.90580722
146Short thorax (HP:0010306)1.89270803
147Arterial tortuosity (HP:0005116)1.88477404
148Bicuspid aortic valve (HP:0001647)1.87072456
149Synostosis of carpal bones (HP:0005048)1.86148999
150Selective tooth agenesis (HP:0001592)1.86131042
151Short ribs (HP:0000773)1.85773350
152Hypophosphatemic rickets (HP:0004912)1.85275901
153Abnormal albumin level (HP:0012116)1.84914276
154Hypoalbuminemia (HP:0003073)1.84914276
155Heterotopia (HP:0002282)1.84596181
156Stridor (HP:0010307)1.84555558
157Pili torti (HP:0003777)1.83777895
158Abnormal hair laboratory examination (HP:0003328)1.83496859
159Chromosomal breakage induced by crosslinking agents (HP:0003221)1.82636511
160Abnormal urine phosphate concentration (HP:0012599)1.82404662
161J-shaped sella turcica (HP:0002680)1.82152396
162Abnormal hemoglobin (HP:0011902)1.81607669
163Abnormal respiratory motile cilium morphology (HP:0005938)1.81233812
164Abnormal respiratory epithelium morphology (HP:0012253)1.81233812
165Progressive muscle weakness (HP:0003323)1.81042418
166Papillary thyroid carcinoma (HP:0002895)1.80742622
167Milia (HP:0001056)1.80268976
168Pterygium (HP:0001059)1.80026947
169Occipital encephalocele (HP:0002085)1.78759682
170Abnormal number of erythroid precursors (HP:0012131)1.78635670
171Heart block (HP:0012722)1.78245594
172Amelogenesis imperfecta (HP:0000705)1.78170088
173Flat capital femoral epiphysis (HP:0003370)1.78013848
174Abnormality of the vitreous humor (HP:0004327)1.76302486
175Distal lower limb muscle weakness (HP:0009053)1.75357833
176Abnormality of the labia majora (HP:0012881)1.75154602
177Recurrent corneal erosions (HP:0000495)1.74453932
178Fibular hypoplasia (HP:0003038)1.74257157
179Breast hypoplasia (HP:0003187)1.74201801
180Nasolacrimal duct obstruction (HP:0000579)1.73918948
181Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.73655183
182Lissencephaly (HP:0001339)1.73272621
183Exostoses (HP:0100777)1.71013190
184Hypoplastic labia majora (HP:0000059)1.68991317
185Absent hair (HP:0002298)1.67472083
186Degeneration of the lateral corticospinal tracts (HP:0002314)1.64697019
187Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.64697019
188Skin pits (HP:0100276)1.64588666
189Abnormality of dentin (HP:0010299)1.63640314
190Hypoplastic nipples (HP:0002557)1.62548557
191Ectopic anus (HP:0004397)1.61929364

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR27.51837491
2PRPF4B5.00367240
3TESK13.53029741
4TAOK23.21254376
5PDK43.07443056
6PDK33.07443056
7MUSK3.03012339
8ERBB32.65393711
9SMG12.64025813
10MAPKAPK32.55272356
11STK392.39485334
12TLK12.34079667
13YES12.29787708
14PRKD32.27221959
15CDK122.23904823
16VRK22.17386438
17PDK22.12506545
18GRK61.98949071
19BLK1.94865898
20SCYL21.77714372
21LATS11.71209530
22RPS6KA41.70216794
23NME11.67590895
24RIPK11.59353953
25DYRK21.57491786
26ICK1.51914883
27MARK11.48800525
28WNK41.43781813
29MST1R1.43569665
30PTK2B1.39951901
31EPHA21.39596796
32DYRK1B1.37379823
33MAP3K41.34538499
34TBK11.28666468
35MST41.24072906
36TGFBR21.18899784
37IRAK21.07912188
38NEK61.07693850
39VRK11.05472304
40MET1.04949560
41MAP3K131.04457763
42RPS6KA21.03301198
43RPS6KA61.03098248
44AKT31.00247342
45NUAK10.99812761
46PDPK10.98883271
47NTRK10.97130467
48SIK10.95869171
49ZAP700.93006151
50SIK20.92711542
51TRPM70.92275988
52DAPK20.91374117
53IKBKE0.90853845
54WNK10.90813381
55CDK60.87484123
56RIPK40.84801585
57CSNK1A1L0.83761433
58MINK10.83507155
59ZAK0.81378786
60PAK20.80290735
61LIMK10.80281221
62ADRBK20.79167107
63LMTK20.79084632
64TGFBR10.78757061
65MAP2K20.77893666
66CDK70.76951474
67DYRK30.76251740
68CSNK1G30.74492147
69UHMK10.74091215
70MAPK110.74032582
71MAP2K60.72920568
72PRKD20.72589079
73STK160.72077671
74CHEK20.71921957
75ERN10.71868898
76PTK60.69982671
77MAPK130.69861861
78MAP3K20.69843868
79MAPK150.69729832
80BMPR20.69445511
81LRRK20.68514842
82EPHB20.67862173
83AURKA0.67373051
84ATR0.65991551
85IRAK30.63680388
86FRK0.63676616
87STK30.63336384
88BRD40.63272559
89CDK40.63042542
90PRKD10.62537015
91MAP3K100.58516341
92NEK20.57047289
93TAF10.56861957
94RPS6KA50.56500474
95CAMKK10.55976189
96RPS6KC10.53942742
97RPS6KL10.53942742
98TESK20.52612634
99BMX0.52294702
100CSNK1G20.51271024
101CSNK1G10.49802132
102PLK20.49476553
103ERBB20.48572307
104PRKCZ0.48467734
105CSNK1D0.47631180
106CDK150.47428557
107MAPK80.46530579
108EEF2K0.46258265
109PKN20.45551080
110CLK10.45528882
111FER0.44713995
112MAP2K10.44442089
113MELK0.43289715
114CDK11A0.43237211
115CDK180.41755534
116PASK0.40946612
117TAOK10.39796709
118TRIB30.39469970
119MYLK0.37814461
120TYRO30.37713824
121STK38L0.37150235
122CDK10.34579583
123MTOR0.34519722
124AURKB0.34074424
125CCNB10.33734705
126PAK60.33053551
127PRKCI0.32927371
128AKT20.32709336
129CDK90.32681226
130CDK80.32537852
131GRK50.31319068
132PAK40.31030316
133RET0.30649834
134GSK3B0.30255348
135CDK20.30250509
136MAP3K60.29813426
137MAP3K30.29546866
138CAMK40.29313747
139RPS6KB20.29044331
140CAMK2B0.28739760
141MARK20.28599822
142MAP3K90.27923707
143NME20.27758886
144HIPK20.27496793
145ILK0.26933600
146PLK30.26457544
147SRPK10.26450264
148STK100.26242886
149CHEK10.26154820
150GSK3A0.25584855
151IKBKB0.25447461
152ARAF0.25320330
153ROCK10.24684300
154ROCK20.24673987
155RPS6KA10.24455847
156CDC42BPA0.24210495
157ADRBK10.23567792
158MAPK140.22922893
159CHUK0.22660056
160DAPK10.22538794
161EIF2AK10.22266552
162MAPKAPK20.22247227
163PHKG20.21090262
164PHKG10.21090262
165OXSR10.20316833
166MAP3K70.18484984

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041225.60219563
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006045.52260488
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.09393954
4Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.03632556
5Fructose and mannose metabolism_Homo sapiens_hsa000513.02535396
6Hippo signaling pathway_Homo sapiens_hsa043902.68994775
7Fatty acid biosynthesis_Homo sapiens_hsa000612.68195112
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.59730642
9Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.56068067
10Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.40723623
11Sulfur metabolism_Homo sapiens_hsa009202.33626003
12Basal cell carcinoma_Homo sapiens_hsa052172.28814471
13TGF-beta signaling pathway_Homo sapiens_hsa043502.13691454
14Tight junction_Homo sapiens_hsa045302.06756443
15Dorso-ventral axis formation_Homo sapiens_hsa043202.02469220
16Phenylalanine metabolism_Homo sapiens_hsa003601.98631327
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.73823738
18Endometrial cancer_Homo sapiens_hsa052131.71658741
19Protein digestion and absorption_Homo sapiens_hsa049741.70699385
20Vitamin digestion and absorption_Homo sapiens_hsa049771.65953481
21Notch signaling pathway_Homo sapiens_hsa043301.62947625
22Fanconi anemia pathway_Homo sapiens_hsa034601.62278069
23Sphingolipid metabolism_Homo sapiens_hsa006001.59096914
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.58237094
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.54311695
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.53524429
27Longevity regulating pathway - mammal_Homo sapiens_hsa042111.53365947
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.53181023
29Histidine metabolism_Homo sapiens_hsa003401.51022659
30Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.50707562
31Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.50100452
32Cyanoamino acid metabolism_Homo sapiens_hsa004601.48119729
33Thyroid cancer_Homo sapiens_hsa052161.46005014
34Estrogen signaling pathway_Homo sapiens_hsa049151.44793533
35Hedgehog signaling pathway_Homo sapiens_hsa043401.43733671
36Adherens junction_Homo sapiens_hsa045201.41424094
37Amoebiasis_Homo sapiens_hsa051461.40923123
38Axon guidance_Homo sapiens_hsa043601.40494151
39Other glycan degradation_Homo sapiens_hsa005111.37536878
40ECM-receptor interaction_Homo sapiens_hsa045121.36526887
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32875100
42Colorectal cancer_Homo sapiens_hsa052101.31722952
43Chemical carcinogenesis_Homo sapiens_hsa052041.30697733
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.30578157
45Prolactin signaling pathway_Homo sapiens_hsa049171.27681586
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.25099402
47Thyroid hormone synthesis_Homo sapiens_hsa049181.24088696
48Wnt signaling pathway_Homo sapiens_hsa043101.22928584
49Melanogenesis_Homo sapiens_hsa049161.22354942
50Amphetamine addiction_Homo sapiens_hsa050311.16621075
51mRNA surveillance pathway_Homo sapiens_hsa030151.15347243
52ErbB signaling pathway_Homo sapiens_hsa040121.11960192
53Focal adhesion_Homo sapiens_hsa045101.10409170
54Type II diabetes mellitus_Homo sapiens_hsa049301.09414335
55Pentose and glucuronate interconversions_Homo sapiens_hsa000401.08403955
56Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.08270043
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.07650818
58Proteoglycans in cancer_Homo sapiens_hsa052051.05842119
59Leukocyte transendothelial migration_Homo sapiens_hsa046701.05722645
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04849714
61Melanoma_Homo sapiens_hsa052181.04286172
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.99112503
63Small cell lung cancer_Homo sapiens_hsa052220.98030426
64Ovarian steroidogenesis_Homo sapiens_hsa049130.96823976
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.96461546
66Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.95023732
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94590956
68Homologous recombination_Homo sapiens_hsa034400.93895971
69Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93678051
70Lysosome_Homo sapiens_hsa041420.93242841
71Dopaminergic synapse_Homo sapiens_hsa047280.92898831
72DNA replication_Homo sapiens_hsa030300.92497621
73Acute myeloid leukemia_Homo sapiens_hsa052210.92265910
74Toxoplasmosis_Homo sapiens_hsa051450.92022807
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.91876652
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.90512301
77Cholinergic synapse_Homo sapiens_hsa047250.89849795
78Tyrosine metabolism_Homo sapiens_hsa003500.88761021
79Pathways in cancer_Homo sapiens_hsa052000.88342258
80Base excision repair_Homo sapiens_hsa034100.88202002
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.88155410
82Chronic myeloid leukemia_Homo sapiens_hsa052200.88082834
83* Taste transduction_Homo sapiens_hsa047420.85892511
84Glutathione metabolism_Homo sapiens_hsa004800.85417158
852-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.85247406
86Prostate cancer_Homo sapiens_hsa052150.84726240
87Adipocytokine signaling pathway_Homo sapiens_hsa049200.83422438
88Insulin resistance_Homo sapiens_hsa049310.83110629
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.83025289
90N-Glycan biosynthesis_Homo sapiens_hsa005100.82958272
91AMPK signaling pathway_Homo sapiens_hsa041520.80525899
92Selenocompound metabolism_Homo sapiens_hsa004500.80380343
93Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.77210755
94Gastric acid secretion_Homo sapiens_hsa049710.77026233
95Rap1 signaling pathway_Homo sapiens_hsa040150.76623172
96Fatty acid metabolism_Homo sapiens_hsa012120.75204483
97* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75159130
98Inositol phosphate metabolism_Homo sapiens_hsa005620.75043584
99Vibrio cholerae infection_Homo sapiens_hsa051100.74730850
100Pancreatic cancer_Homo sapiens_hsa052120.74424727
101Circadian rhythm_Homo sapiens_hsa047100.73312583
102Non-small cell lung cancer_Homo sapiens_hsa052230.72694997
103mTOR signaling pathway_Homo sapiens_hsa041500.71507774
104Hepatitis C_Homo sapiens_hsa051600.70759198
105Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.68520048
106VEGF signaling pathway_Homo sapiens_hsa043700.67514024
107Cocaine addiction_Homo sapiens_hsa050300.66399563
108PI3K-Akt signaling pathway_Homo sapiens_hsa041510.66190922
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64684396
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64440193
111Alcoholism_Homo sapiens_hsa050340.64102026
112Glioma_Homo sapiens_hsa052140.63344928
113Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.63216153
114Glucagon signaling pathway_Homo sapiens_hsa049220.62711089
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.61665972
116GnRH signaling pathway_Homo sapiens_hsa049120.61580748
117Biosynthesis of amino acids_Homo sapiens_hsa012300.60842207
118Cell cycle_Homo sapiens_hsa041100.60740840
119ABC transporters_Homo sapiens_hsa020100.60621961
120Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59134784
121Mineral absorption_Homo sapiens_hsa049780.58374612
122Arachidonic acid metabolism_Homo sapiens_hsa005900.57798851
123Insulin signaling pathway_Homo sapiens_hsa049100.56839174
124MicroRNAs in cancer_Homo sapiens_hsa052060.54773675
125Lysine degradation_Homo sapiens_hsa003100.54762724
126Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.54161547
127Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.52146425
128Gap junction_Homo sapiens_hsa045400.52085195
129cGMP-PKG signaling pathway_Homo sapiens_hsa040220.50318736
130MAPK signaling pathway_Homo sapiens_hsa040100.49612043
131Collecting duct acid secretion_Homo sapiens_hsa049660.48519458
132Pyruvate metabolism_Homo sapiens_hsa006200.48014674
133Galactose metabolism_Homo sapiens_hsa000520.47866423
134HTLV-I infection_Homo sapiens_hsa051660.47789561
135Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.47546498
136Long-term potentiation_Homo sapiens_hsa047200.47465590
137beta-Alanine metabolism_Homo sapiens_hsa004100.46129755
138Viral myocarditis_Homo sapiens_hsa054160.45595678
139Bladder cancer_Homo sapiens_hsa052190.45582177
140Pyrimidine metabolism_Homo sapiens_hsa002400.44550464
141Cysteine and methionine metabolism_Homo sapiens_hsa002700.44230169
142Propanoate metabolism_Homo sapiens_hsa006400.44074787
143Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.43076647
144Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42695609
145RNA transport_Homo sapiens_hsa030130.36869601
146RNA polymerase_Homo sapiens_hsa030200.35796435
147Nicotine addiction_Homo sapiens_hsa050330.35373505
148Bile secretion_Homo sapiens_hsa049760.33897193
149Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.30035500
150Neurotrophin signaling pathway_Homo sapiens_hsa047220.29965974
151cAMP signaling pathway_Homo sapiens_hsa040240.28703589
152Aldosterone synthesis and secretion_Homo sapiens_hsa049250.28621757
153Endocytosis_Homo sapiens_hsa041440.27665746
154One carbon pool by folate_Homo sapiens_hsa006700.27617119
155* Calcium signaling pathway_Homo sapiens_hsa040200.26983663
156Basal transcription factors_Homo sapiens_hsa030220.25278769
157Arginine and proline metabolism_Homo sapiens_hsa003300.25000560

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